Reasearch Interests

Dr. Kuivaniemi's laboratory is interested in the genetic risk factors of abdominal aortic aneurysms (AAA). They currently have 233 multiplex families for AAA and are using DNA linkage analysis with "affected relative pair" -approach to identify regions on the human chromosomes that appear to be linked to the AAA. The long-term goal of the project is to identify the gene(s) that harbor mutations in patients with AAA. The results obtained in these studies are likely to yield important information regarding the genetic factors contributing to the development of AAA, and could provide the basis for genetic testing to identify those individuals at risk for developing AAA. Such individuals could then be monitored by ultrasonography to detect the dilatation of abdominal aorta and surgically repair the aneurysms before they rupture and lead to massive bleeding and often sudden death.

Selected Publications

Kuivaniemi, H., Yoon, S., Shibamura, H., Skunca, M., Vongpunsawad, S., and Tromp, G. Primer-extension preamplified DNA is a reliable template for genotyping. Clin. Chem. 48: 1601-1603, 2002.

Yoon, S., Kuivaniemi, H ., Gatalica, Z., Olson, J. M., Buttice, G., Ye, S., Norris, B. A., Malcom, G. T., Strong, J. P., and Tromp, G. MMP13 promoter polymorphism is associated with atherosclerosis in the abdominal aorta of young black males. Matrix Biol. 21: 487-498, 2002.

Olson J.M., Vongpunsawad, S., Kuivaniemi, H., Ronkainen, A., Hernesniemi, J., Ryynanen, M., Kim, L.-L., and Tromp, G. Search for intracranial aneurysm susceptibility gene(s) using Finnish families. BMC Medical Genetics 3: 7, 2002.

Kuivaniemi, H., Shibamura, H., Arthur, C., Berguer, R., Cole, C. W., Juvonen, T., Kline, R. A., Limet, R., MacKean, G., Norrgård, Ö., Pals, G., Powell, J. T., Rainio, P., Sakalihasan, N., van Vlijmen-van Keulen, C., Verloes, A., and Tromp, G. Familial abdominal aortic aneurysms: Collection of 233 multiplex families. J. Vasc. Surg. 37 : 340-345, 2003.

Wills, S., Ronkainen, A., van der Voet, M., Kuivaniemi, H., Helin, K., Leinonen, E., Frosen, J., Niemela, M., Jaaskelainen, J., Hernesniemi, J., and Tromp, G. Familial intracranial aneurysms: An analysis of 346 multiplex Finnish families. Stroke 34 : 1370-1374, 2003.

Kuivaniemi, H ., and Shibamura, H. Candidate genes for abdominal aortic aneurysms. In: Diseases of the Aorta. D. Liotta and M. del Rio , eds., pp. 89-100, 2003.

Kuivaniemi, H . Editorial: Are there genes for aneurysms in the blueprint of the human genome? Ann. Vasc. Surg. 18 : 2-3, 2004.

van der Voet, M., Olson, J. M., Kuivaniemi,H., Dudek, D. M., Skunca, M., Ronkainen, A., Niemela, M., Jaaskelainen, J., Hernesniemi, J., Helin, K., Leinonen, E., Biswas, M., and Tromp, G. Intracranial aneurysms in Finnish families: confirmation of linkage and refinement of the interval to chromosome 19q13.3. Am. J. Hum. Genet. 74 : 564-571, 2004

Goddard, K. A. B., Olson, J. M., Payami, H., van der Voet, M., Kuivaniemi,H., and Tromp, G. Evidence of Linkage and Association on Chromosome 20 for late Onset Alzheimer Disease. Neurogenetics 5 : 121-128, 2004.

Shibamura, H., Olson, J.M., van Vlijmen-van Keulen, C., Buxbaum, S.G., Dudek, D.M., Tromp, G., Ogata, T., Skunca, M., Sakalihasan, N., Pals, G., Limet, R., MacKean, G.L., Defawe, O., Verloes, A., Arthur, C., Lossing, A.G., Burnett, M., Sueda, T., and Kuivaniemi, H . Genome Scan for Familial Abdominal Aortic Aneurysm Using Sex and Family History as Covariates Suggests Genetic Heterogeneity and Identifies Linkage to Chromosome 19q13. Circulation 109 : 2103-2108, 2004.

Theendakara, V., Tromp, G., Kuivaniemi, H. , White, P.S., Panchal, S., Cox, J., Winters, R.S., Riebeling, P., Tost, F., Hoeltzenbein, M., Tervo, T.M., Henn, W., Denniger, E., Krause, M., Koksal, M., Kargi, S., Ugurbas, S.H., Latvala, T., Shearman, A.M., and Weiss, J.S. Fine mapping of the Schnyder's crystalline corneal dystrophy locus. Hum. Genet. 114 : 594-600, 2004.

Tromp, G., Gatalica, Z., Skunca, M., Berguer, R., Siegel, T., Kline, R., and Kuivaniemi, H. Elevated Expression of Matrix Metalloproteinase-13 in Abdominal Aortic Aneurysms. Ann. Vasc. Surg. 18 :414-420, 2004.

Gatalica, Z., Velagaleti, G., Kuivaniemi, H. , Tromp, G., Palazzo, J., Graves , K.M., Guigneaux, M., Wood, T., Sinha, M., and Luxon, B. Gene expression profile of an adenomyoepithelioma of the breast with reciprocal translocation involving chromosomes 8 and 16 [46,XX,t(8;16)(p23;q21)]. Cancer Genet. Cytogenet. 156 : 14-22, 2004.

Ogata, T., Shibamura, H., Tromp, G., Sinha, M., Goddard, K.A.B., Sakalihasan, N., Limet, R., MacKean, G.L., Arthur, C., Sueda, T., Land, S., Kuivaniemi, H. Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms. J Vasc Surg 41 : 1036-1042, 2005

Ogata, T., MacKean, G.L., Cole, C.W., Arthur, C., Andreou, P., Tromp, G., and Kuivaniemi, H. The life-time prevalence of abdominal aortic aneurysms among siblings of aneurysm patients is eight-fold higher than among siblings of spouses; an analysis of 187 aneurysm families in Nova Scotia , Canada . J Vasc. Surg. 42 : 891-897, 2005.

Ogata, T., Arrington, S., Davis, Jr., M.P., Sam, A.D., Hollier, L.H., Tromp, G., Kuivaniemi, H. Community-based, non-profit organization-sponsored ultrasonography screening program for abdominal aortic aneurysms is effective at identifying occult aneurysms. Ann. Vasc. Surg. 20 : 312-316, 2006.

Meftah SP, Kuivaniemi H, Tromp G, Kerkeni A, Sfar MT, Ayadi A, and Prasad AS. A new mutation in exon 3 of the SCL39A4 gene in a Tunisian family with severe acrodermatitis enteropathica. Nutrition (in press)

Ogata T, Gregoire L, Goddard KAB, Skunca M, Tromp G, Lancaster WD, Parrado AR , Lu Q, Shibamura H, Sakalihasan N, Limet R, MacKean GL, Arthur C, Sueda T and Kuivaniemi H. Evidence for association between the HLA–DQA locus and abdominal aortic aneurysms in the Belgian population: a case control study. BMC Medical Genetics 7:67,2006.

Kuivaniemi H and Ogata T. Editor's choice: Highlights of the recent literature on abdominal aortic aneurysms. Ann. Vasc. Surg. 20: 1-4, 2006.

Banerjee A and Kuivaniemi H. Genomic and proteomic profiling in anti-cancer therapeutics. BIOforum Europe 6: 38-39, 2006